Overview
Oxford Nanopore are sponsoring, exhibiting and presenting at this event.
The Oxford Nanopore lunchtime corporate satellite Empowering comprehensive sequencing at scale will take place on Monday 3rd June between 12:00 pm – 13:00 pm CEST.
Register below and join the session in good time to take your seat. Seats allocated on a first come first serve basis.
Please also visit us at Booth #310 if you are able to attend the event.
Register for corporate satellite
Agenda
12:00 – 13:00 hrs CEST | Agenda (subject to change) | |
|---|---|---|
12:00 - 12:10 hrs | Catching the unnoticed, what you're missing matters | Cora Vacher, Oxford Nanopore Technologies |
12:10 - 12:30 hrs | Clinical WGS on the PromethION | Greg Elgar, Genomics England |
12:30 - 12:50 hrs | Large-scale methylation studies using nanopore sequencing | Brynja Sigurpálsdóttir, deCODE genetics |
12:50 - 13:00 hrs | Q&A and audience discussion | Facilitated by Cora Vacher, Oxford Nanopore Technologies |
Speakers
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Clinical WGS on the PromethION
Greg Elgar, Genomics England
I have 40 years’ experience in molecular biology, including 30 years in Genomics at Principal Invest...
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Large-scale methylation studies using nanopore sequencing
Brynja Sigurpálsdóttir , Scientist / Researcher, deCODE genetics
I'm a research associate at deCODE genetics and working on my PhD from Reykjavík University. I did m...
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Catching the unnoticed, what you’re missing matters
Cora Vacher, Segment Marketing Manager, Oxford Nanopore Technologies
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'Happy hour' drinks reception
Oxford Nanopore are hosting 'happy hour' drinks Sunday 2nd June between 15:30 - 16:30 CEST at the Oxford Nanopore exhibition booth #310. Join us for plenty of food and drinks and networking!
Register below to secure your place and receive more details about the event.
Register for drinks reception
Booth demos
Demo title | Description | Date |
|---|---|---|
Flow cell loading: DNA to data within few minutes: a real-time demo | Learn how to load a library onto a flow cell, start sequencing and see the data produced in real time. | Saturday 1st June - 10:00 am Sunday 2nd June - 10:15 am Monday 3rd June - 3:30 pm |
Single cell demo: Individual cells matter | Here we will discuss single-cell nanopore sequencing from sample to answer, including a live demonstration of the analysis workflow. | Saturday 1st June - 12:30 pm Sunday 2nd June - 12:15 pm Monday 3rd June - 10:00 am |
EPI2ME demo: Analyse the human genome with few clicks | Learn about EPI2ME, an intuitive analysis platform including integrated and comprehensive analysis of the human genome within a single analysis workflow. | Saturday 1st June - 4:00 pm Monday 3rd June - 10:30 am |
Data for Breakfast
Visit our booth for Data for Breakfast.
The Oxford Nanopore team will present at exhibition booth #310 on Sunday 2nd June from 09:45 — 10:00 AM CEST.
Nanopore sequencing tackles challenging genes : Long read sequencing enables greater insights into low complexity genomic regions, for example repeat expansions, and technically challenging regions, for example highly homologous genes. Here we show how nanopore sequencing facilitates in-depth investigation of these regions, particularly SMN1/2, CYP21A2 and genes involved in pharmacogenomics for example CYP2D6/7.
Presentations featuring nanopore research
Saturday 1st June
PL3 What’s new? Highlight Session
17:00 – 17:15
Andrew Sharp: A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability
EO1 Telomeres in Cancer
10:30 -12:00
Claus M.Azzalin: Telomere transcription, TERRA and telomere maintenance
CO2 Reproductive genetics
18:30-20:00
Yan Zhao: The potential of long-read whole genome sequencing based preimplantation genetic testing
CO4 Novel genes in neurogenetic disorders
18:30-20:00
Maria Cerminara: Somatic Short-Tandem Repeats (STR) amplification in neurodevelopmental disorders with regression: the role of FAN1 and DNA repair pathway deficiencies
Sunday 2nd June
C16 Neuromuscular omics
Franziska Haarich: Allele-specific epigenome therapy in COL6-RD patient-derived primary fibroblasts
C17 Best Poster 1
10:30 -12:00
Barbara Slapnik: Detection of mitochondrial heteroplasmy: A comparison between long nanopore reads and short illumina reads
Vasiliki Tsapalou: “Towards charactersing inversions in 1000 individuals across the human population using single-cell pooled and long-read data”
S14: Long-read sequencing in the clinic
17:00 – 18:30
Danny Miller: Long read sequencing in clinical practice: ending the diagnostic odyssey
Stephan Ossowski: Clinical diagnostics using nanopore sequencing
Monday 3rd June
EO5 Next generation cytogenetics
8:30 – 10:00
Jan Korbel: Insights into cytogenetic aberration by long-read sequencing
C18 New technologies to identify causal variants
10:30 – 12:00
Kartik Chundru: Full-length transcript atlas of the developing human cortex uncovers novel candidate diagnoses in developmental disorders
C22 What is in your brain?
10:30 – 12:00
Vivien Horvath: Local heterochromatin mitigates the impact of transposable element insertion causing a mendelian neurodegenerative disorder
Tobias Haack: Long-read genome sequencing improves diagnostic sensitivity and aids gene identification
W17 Structural Chromosomal variants
14:00 – 15:30
Lars Feuk: Flexible and rapid validation of structural variation using nanopore adaptive sampling
S26 Complete Genomes
17:00 – 18:30
Evan Eichler: Sturctural variation diversity and T2T human genomes
Tuesday 4th June
S30 Repeat expansion disorders: progress and puzzles
9:00 – 10:30
Mark Corbett: ATTTT/ATTTC repeat expansions in Familial Adult myoclonic epilepsy
For details of posters featuring nanopore research, please visit the ESHG 2024 event app
Translating Nanopore sequencing into the clinic
Prof. Ahmad Abou Tayoun, Al Jalila Children's Specialty Hospital and Mohammed Bin Rashid University, will present on the Oxford Nanopore booth between 11:00 - 11:20 AM on Sunday 2nd June.
Abstract: I will briefly present two ONT applications for rare disease diagnostics. The first is a dual-mode PCR-based ONT assay targeting highly homologous genes SMN1 and SMN2 for comprehensive variant analysis supporting SMA diagnostics and screening. The second is a long read whole genome sequencing and methylation assay with an optimized clinical pipeline to prioritize pathogenic variants in patients with rare diseases. We apply this approach to a group of patients, who remain undiagnosed after short read sequencing, and demonstrate the added diagnostic increment, as well as the discovery of novel variation and disease-specific methylation profiles.
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"...our results demonstrate the potential of long-read sequencing as a single unified assay for routine clinical genetic testing and the discovery of novel rare disease variation"